trichothiodystrophy 7, nonphotosensitive
MONDO:0032806Mondo
Findings
No curated finding names trichothiodystrophy 7, nonphotosensitive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Tiger tail bandingHPOHP:0045055
- 2 of 2 reported patients
- IchthyosisHPOHP:0008064
- 1 of 2 reported patients
- Cutaneous photosensitivityHPOHP:0000992
- 0 of 1 reported patient
- Brittle hairHPOHP:0002299
- Congenital nonbullous ichthyosiform erythrodermaHPOHP:0007479
- Follicular hyperkeratosisHPOHP:0007502
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TARS1HGNC:11572
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Moderate · G2P · Autosomal recessive · 2025
Where it sits
- A kind of